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X-linked sideroblastic anemia with ataxia

ABCB7 · rs72554634

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What ClinVar records

Classification Benign; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-02-16. ClinVar record 1986633 NM_001271696.3(ABCB7):c.1200T>A (p.Ile400=)

Classification Uncertain significance for X-linked sideroblastic anemia with ataxia; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2017-04-27. ClinVar record 914588 NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=)

Classification Pathogenic for X-linked sideroblastic anemia with ataxia; criteria provided, single submitter (1 of 4 stars, 3 submitters), last evaluated 2012-11-15. ClinVar record 11574 NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met)

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A No copy of the version ClinVar lists as disease-causing for X-linked sideroblastic anemia with ataxia. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000011574, criteria provided, single submitter)
A/C One copy of the version ClinVar lists as disease-causing for X-linked sideroblastic anemia with ataxia. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. So far only one lab has made this call, so it may change. (ClinVar VCV000011574, criteria provided, single submitter)
C/C Two copies of the version ClinVar lists as disease-causing for X-linked sideroblastic anemia with ataxia. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. So far only one lab has made this call, so it may change. (ClinVar VCV000011574, criteria provided, single submitter)

Source: ClinVar VCV000011574, criteria provided, single submitter

Questions about rs72554634

What is rs72554634?

rs72554634 is a single position in the genome, in or near the ABCB7 gene. Published research associates it with x-linked sideroblastic anemia with ataxia. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs72554634 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs72554634 come from?

ClinVar VCV000011574, criteria provided, single submitter. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

X-linked sideroblastic anemia with ataxia (rs72554634). MyGeneLog™. https://www.mygenelog.com/variants/rs72554634

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